Context: The diagnosis of the polycystic ovary syndrome requires the exclusion of nonclassical congenital adrenal hyperplasia (NCAH).
Objective: Our objective was to evaluate the actual prevalences of 21-hydroxylase and 11beta-hydroxylase deficiencies among women presenting with hyperandrogenic complaints.
Settings: This study was performed at an academic hospital.
Patients: A total of 270 consecutive unselected women presenting with hyperandrogenic symptoms were prospectively recruited.
Interventions: Basal and ACTH-stimulated 11-deoxycortisol and 17-hydroxyprogesterone concentrations were measured.
Main Outcome Measures: The prevalences of 21-hydroxylase and 11beta-hydroxylase deficiencies were calculated, and the diagnostic performance of basal serum 17-hydroxyprogesterone levels for the screening of NCAH was evaluated by receiver operating characteristic curve analysis.
Results: Six of the 270 patients had 21-hydroxylase-deficient NCAH that was confirmed by CYP21 genotyping, whereas no patient was diagnosed with 11beta-hydroxylase deficiency, for an overall NCAH prevalence of 2.2% (95% confidence limits 0.5-3.9%). According to receiver operating characteristic analysis, a single basal serum 17-hydroxyprogesterone determination has a 0.97 (95% confidence interval: 0.934-1.008) chance of detecting NCAH in hyperandrogenic women. In our experience, the most appropriate cutoff value for the detection of NCAH is a 17-hydroxyprogesterone above 1.7 ng/ml, showing a 100% sensitivity and a 88.6% specificity. Five of the six 21-hydroxylase-deficient NCAH patients carried a severe CYP21 allele requiring genetic counseling and highlighting the importance of excluding this disorder among hyperandrogenic patients.
Conclusions: The prevalence of NCAH among hyperandrogenic patients from Spain is 2.2%. Basal serum 17-hydroxyprogesterone measurements have an excellent diagnostic performance, yet the cutoff value should be established in each laboratory to avoid false-negative results.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1210/jc.2007-2053 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Asymptomatic lung abscess of aspergillus in a female without previous lung diseases or immunocompromise: a case report.
BMC Infect Dis
January 2025
Department of Respiratory and Critical Care Medicine, Beijing Youan Hospital, Capital Medical University, Beijing, 100069, China.
Background: Chronic pulmonary abscess usually results from bacterial or mycobacterium infection, but rarely from aspergillosis. Chronic pulmonary aspergillosis is usually found in a person with structural lung disease or immunocompromise. Here, we report a case of chronic lung abscess of aspergillosis without immunocompromise, structural lung diseases or even clinical symptoms.
View Article and Find Full Text PDFThe association of biological sex and long-term outcomes in older patients with physical restraint at the emergency department.
BMC Geriatr
January 2025
Emergency Department, Beaujon Hospital AP-HP, Clichy, France.
Background: The worldwide population is ageing and self-arm can be prevented with many techniques. Among them coercive measure consisting of physical restraint (PR) is one of the techniques. This study aims to assess the effects of the biological sex on the long-term survival after PR in geriatric patients during the initial emergency department (ED) visit.
View Article and Find Full Text PDFSteroid-resistant nephrotic syndrome as paraneoplastic syndrome of Waldenström macroglobulinemia: a case report.
CEN Case Rep
January 2025
Division of Nephrology and Hypertension, Department of Internal Medicine, St. Marianna University School of Medicine, Yokohama City Seibu Hospital, Yokohama, Japan.
Reports of glomerulonephritis associated with lymphoproliferative disorders are common, but reports of minimal change disease (MCD) accompanying non-Hodgkin's lymphoma are rare. Here, we present a case of a 45-year-old woman diagnosed with primary Waldenström's macroglobulinemia (WM) during MCD treatment. Her kidney biopsy revealed endothelial cell injury in parts of the MCD.
View Article and Find Full Text PDFAnalysis of sex-specific disease patterns associated with human lifespan.
Geroscience
January 2025
Cellular Oncology Group, Biogipuzkoa (Biodonostia) Health Research Institute, San Sebastian, Spain.
Disability and multimorbidity increase with aging and constitute a challenge for the health system. However, different individuals display different aging trajectories, and understanding the underlying relationships between lifespan and disease is fundamental for identifying the different patterns in human lifespan. A previous study explored associations between lifespan and age of onset of diseases of different organ systems, prevalence of escapers, and percentage of life free of disease (health span), comparing them between genders in Catalonian population.
View Article and Find Full Text PDFGastric Ultrasound in the Management of Emergency Department Patients with Upper Gastrointestinal Bleeding: A Case Series and Sonographic Technique.
J Emerg Med
August 2024
Department of Emergency Medicine, Rutgers New Jersey Medical School, Newark, New Jersey.
Background: Gastrointestinal bleeding (GIB) is a common condition in the emergency department (ED) with high incidence and mortality.
Objectives: Very early risk stratification of GIB patients can sometimes be a challenge. The decision to intubate these patients is multifactorial and requires careful consideration.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!